Simplifying genetic analysis

Making it easier to extract biologically relevant information for genetic analysis and variant annotation

Variant Analysis

When analyzing genetic variants, finding biologically meaningful information can pose a challenge. Illumina can provide variant annotation and analysis in a context that helps drive research forward. We offer powerful analysis and reporting tools that aggregate information from a broad range of sources.

Our easy-to-use data analysis tools and access to curated variants with known biological associations make the large volumes of genomic data that come with advances in next-generation sequencing manageable. Extensive filters and efficient categorization processes streamline assessment of biologically relevant variants.

Illumina strives to provide researchers with tools that annotate and analyze variants efficiently to help find answers and leverage biological data for future experimental designs. Our rich repositories of genotype-phenotype and evidence-based variant associations can help labs expedite interpretation of the biological impact of variants of interest.

Illumina variant analysis software tools offer several research-enhancing features:

  • Intuitive user interfaces enable researchers without bioinformatics expertise to explore genomic data and analyze variants
  • Comprehensive variant annotation from a broad range of sources
  • Efficient variant-to-report workflows
  • Customizable reporting
Comprehensive Variant Analysis for Rare Genetic Disease

Simplify rare variant analysis and interpretation by calling, prioritizing, and reporting on variants from one software interface. Our software suite is designed for high-throughput labs using whole-genome sequencing to evaluate and report on variants associated with rare genetic disease.

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Comprehensive Variant Analysis Software
BaseSpace Variant Interpreter

This online cloud-based platform assesses variant significance by rapidly annotating, filtering, and interpreting genomic data.

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BaseSpace Correlation Engine

This web-based platform aids research designs by mining > 20,000 genomic studies to find data-driven answers for genes, experiments, drugs, and phenotypes.

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VariantStudio Software

This desktop software tool enables identification of disease-relevant variants from human whole-genome or exome sequencing experiments.

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Learn how this software tool can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report.

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BaseSpace Correlation Engine Overview Video
BaseSpace Correlation Engine Overview Video

BaseSpace Correlation Engine offers a library of curated genomic data so researchers can validate results and test new hypotheses.

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Cohort Analysis with BaseSpace Informatics
Cohort Analysis with BaseSpace Informatics

Translate complex genomic data into meaningful insights with BaseSpace Cohort Analyzer and BaseSpace Correlation Engine.

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BaseSpace Knowledge Network Tech Note
BaseSpace Knowledge Network Technical Note

Variant interpretation is simplified with organized biomarker content curated from large public databases.

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Integrating Variant Analysis and Clinical Data
Integrating Variant Analysis and Clinical Data

As a result of the SUREKids project, two hospitals jointly developed clinical bioinformatics teams for a national sequencing program.

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